ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2684C>G (p.Thr895Ser) (rs115042043)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221568 SCV000270371 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing p.Thr895Ser in exon 19 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 0.4% (11/2250) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs115042043).

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